Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

ABSTRACT: Congenital diaphragmatic hernia (CDH) can occur in isolation or in conjunction with other birth defects (CDH+). A molecular etiology can only be identified in a subset of CDH cases. This is due, in part, to an incomplete understanding of the genes that contribute to diaphragm development. Here, we used clinical and molecular data from 36 individuals with CDH+ who are cataloged in the DECIPHER database to identify genes that may play a role in diaphragm development and to discover new phenotypic expansions. Among this group, we identified individuals who carried putatively deleterious sequence or copy number variants affecting CREBBP, SMARCA4, UBA2, and USP9X. The role of these genes in diaphragm development was supported by their expression in the developing mouse diaphragm, their similari

SUBMITTER: Hardcastle A 

PROVIDER: S-EPMC9474674 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature